Patient-reported Outcomes for Children With Unilateral Congenital Below Elbow Deficiency

Background: The Patient Reported Outcomes Measurement Information System (PROMIS (R)) is a validated tool used to evaluate different domains of function in patients with chronic health conditions. This tool has not been validated in children with unilateral congenital below elbow deficiency (UCBED). The purpose of this study was to determine whether PROMIS discerns functional impairment for children with UCBED and whether children with UCBED differ from the general population with respect to PROMIS outcomes. We hypothesized that children with UCBED report mild impairment in upper extremity function but normal mobility, pain interference and peer relations. Methods: A retrospective chart review of children aged 5 to 17 years with a diagnosis of UCBED who completed a PROMIS questionnaire at their clinic visit at the [blinded locations] was conducted between April 1, 2017 and March 31, 2020. The mean PROMIS scores of UCBED patients were compared with that of the general reference population. Mann Whitney and ANOVA tests were used to explore the differences across the PROMIS upper extremity function domain by arm length and prosthesis use. Results: Fifty-five children (28 boys) with a mean age of 11 +/- 3.6 years met the inclusion criteria. Children with UCBED had similar PROMIS scores as the reference population in mobility (51.9 +/- 6.2), peer relations (53.5 +/- 9.4), and pain interference (40.1 +/- 7.2), with mild impairment in the upper extremity function (44.3 +/- 10.7). Compared with the 8 to 17-year-old co-hort, the parent-proxy (5 to 7-year-old group) reported significantly more upper extremity function impairment (31.3 +/- 5.9) vs (48.0 +/- 8.8) (P = 0.000). The two age groups did not differ with respect to mobility, pain interference and peer relations. Conclusions: Our study confirms previous findings that children with UCBED report upper extremity function, peer relationships, pain interference, and mobility, similar to the reference population. In addition, parents of younger children with UCBED report more upper extremity functional impairment than is self-reported by older children with UCBED.